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Upshaw-Schulman Syndrome With c.2728C>T Mutation in ADAMTS13 Gene

Resham, Shahzadi, MBBS, FCPS*; Fadoo, Zehra, MBBS, MD (Pediatric Hematology & Oncology); Moiz, Bushra, MBBS, FCPS (Hematology)

Journal of Pediatric Hematology/Oncology: January 2019 - Volume 41 - Issue 1 - p e60–e62
doi: 10.1097/MPH.0000000000001226
Online Articles: Clinical and Laboratory Observations

Congenital thrombotic thrombocytopenic purpura is a rare autosomal recessive disorder presenting with hemolytic anemia, thrombocytopenia, micro vascular thrombosis, and end organ damage. Here, we present a case of a 7-year-old girl having recurrent neonatal hemolysis, developmental delay, frequent seizures, and thrombocytopenia. Characteristic clinical picture and gene sequencing of a disintegrin and metalloproteinase with thrombospondin motifs 13 confirmed the diagnosis of Upshaw-Schulman syndrome. She was treated successfully with plasma infusion. The patient is alive at 6-month post follow-up, and on regular plasma therapy. Congenital thrombotic thrombocytopenic purpura should be considered in the differential diagnosis of thrombocytopenia with hemolytic anemia in infants.

Departments of *Pediatrics and Child Health


Pathology and Laboratory Medicine, Aga Khan University Hospital, Karachi, Pakistan

The authors declare no conflict of interest.

Reprints: Shahzadi Resham, MBBS, FCPS, Department of Pediatrics and Child Health, Aga Khan University, Stadium Road, P.O. Box 3500, Karachi 74800, Pakistan (e-mail:

Received June 20, 2017

Accepted April 14, 2018

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